PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000361813	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252616]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252471]]
ENST00000368267	[[156219528, 156219745], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252620]]	[[156219528, 156219745], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252471]]
ENST00000476954	[[156219823, 156220461], [156220648, 156221171]]	None
ENST00000473643	[[156220869, 156221268], [156222204, 156222346]]	None
ENST00000468993	[[156222838, 156222869], [156223239, 156223553]]	None
ENST00000489907	[[156235927, 156236171], [156236297, 156236469], [156237260, 156237379]]	None
NM_015327	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252620]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252471]]
NM_001323616	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156251583, 156251715], [156252397, 156252681]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247814]]
NM_001323614	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252681]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252471]]
NM_001323615	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252681]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156252397, 156252471]]
NM_001323617	[[156219014, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247839], [156248726, 156248825], [156256423, 156256578], [156261193, 156261289]]	[[156220377, 156220461], [156220648, 156220787], [156221193, 156221268], [156222204, 156222295], [156222709, 156222869], [156223239, 156223299], [156228795, 156228954], [156230241, 156230417], [156231123, 156231199], [156233185, 156233361], [156235571, 156236171], [156236331, 156236469], [156237260, 156237469], [156237905, 156237974], [156238080, 156238206], [156242110, 156242189], [156243151, 156243241], [156244387, 156244477], [156246875, 156247032], [156247715, 156247814]]

Promoter

Chrom	Start	End	Description
chr1	156223236	156223240	CAGE_peak_4_at_SMG5_5end
chr1	156252590	156252637	CAGE_peak_1_at_SMG5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I156243	156243981	156248680	1.64	[{'connected_gene': 'PAQR6', 'score': 571.27}, {'connected_gene': 'SMG5', 'score': 71.51}, {'connected_gene': 'GLMP', 'score': 24.07}, {'connected_gene': 'BGLAP', 'score': 0.77}, {'connected_gene': 'GC01M156228', 'score': 0.29}]
chr1	GH01I156258	156257447	156258991	1.02	[{'connected_gene': 'PAQR6', 'score': 20.7}, {'connected_gene': 'GLMP', 'score': 11.74}, {'connected_gene': 'SEMA4A', 'score': 11.24}, {'connected_gene': 'LAMTOR2', 'score': 10.25}, {'connected_gene': 'UBQLN4', 'score': 10.25}, {'connected_gene': 'GC01M156251', 'score': 0.44}, {'connected_gene': 'PIR50521', 'score': 0.44}, {'connected_gene': 'SMG5', 'score': 0.34}, {'connected_gene': 'GC01M156228', 'score': 0.34}]
chr1	GH01I156145	156145490	156153216	2.14	[{'connected_gene': 'SEMA4A', 'score': 550.77}, {'connected_gene': 'SLC25A44', 'score': 16.78}, {'connected_gene': 'ENSG00000252236', 'score': 12.16}, {'connected_gene': 'LMNA', 'score': 11.77}, {'connected_gene': 'MEX3A', 'score': 11.77}, {'connected_gene': 'BGLAP', 'score': 11.22}, {'connected_gene': 'PAQR6', 'score': 11.22}, {'connected_gene': 'TSACC', 'score': 10.05}, {'connected_gene': 'CCT3', 'score': 10.04}, {'connected_gene': 'SMG5', 'score': 5.11}, {'connected_gene': 'ARHGEF2', 'score': 4.77}, {'connected_gene': 'RIT1', 'score': 4.06}, {'connected_gene': 'MEF2D', 'score': 3.17}, {'connected_gene': 'YY1AP1', 'score': 2.01}, {'connected_gene': 'GC01P156160', 'score': 0.39}, {'connected_gene': 'GC01P156159', 'score': 0.39}]
chr1	GH01I156366	156366840	156374290	2.35	[{'connected_gene': 'RHBG', 'score': 560.61}, {'connected_gene': 'ISG20L2', 'score': 14.61}, {'connected_gene': 'ENSG00000246203', 'score': 12.25}, {'connected_gene': 'MSTO1', 'score': 12.08}, {'connected_gene': 'MSTO2P', 'score': 11.63}, {'connected_gene': 'RRNAD1', 'score': 11.09}, {'connected_gene': 'GON4L', 'score': 10.41}, {'connected_gene': 'CCT3', 'score': 5.04}, {'connected_gene': 'SMG5', 'score': 4.6}, {'connected_gene': 'GC01M156384', 'score': 0.37}]
chr1	GH01I156486	156486183	156511544	2.87	[{'connected_gene': 'MEF2D', 'score': 567.49}, {'connected_gene': 'RRNAD1', 'score': 55.21}, {'connected_gene': 'GON4L', 'score': 54.79}, {'connected_gene': 'KHDC4', 'score': 41.29}, {'connected_gene': 'ENSG00000271267', 'score': 35.04}, {'connected_gene': 'MSTO2P', 'score': 32.49}, {'connected_gene': 'MSTO1', 'score': 31.63}, {'connected_gene': 'LOC246784', 'score': 30.34}, {'connected_gene': 'ISG20L2', 'score': 27.09}, {'connected_gene': 'ENSG00000246203', 'score': 21.34}, {'connected_gene': 'BCAN', 'score': 12.14}, {'connected_gene': 'CCT3', 'score': 11.42}, {'connected_gene': 'NAXE', 'score': 11.41}, {'connected_gene': 'PRCC', 'score': 11.31}, {'connected_gene': 'C1orf61', 'score': 11.14}, {'connected_gene': 'SSR2', 'score': 10.91}, {'connected_gene': 'YY1AP1', 'score': 10.86}, {'connected_gene': 'GLMP', 'score': 10.77}, {'connected_gene': 'ASH1L-AS1', 'score': 10.43}, {'connected_gene': 'LMNA', 'score': 9.97}, {'connected_gene': 'ETV3', 'score': 9.76}, {'connected_gene': 'ENSG00000260460', 'score': 5.22}, {'connected_gene': 'SMG5', 'score': 5.09}, {'connected_gene': 'PMF1', 'score': 4.47}, {'connected_gene': 'SLC25A44', 'score': 2.53}, {'connected_gene': 'TSACC', 'score': 1.7}, {'connected_gene': 'GC01M156484', 'score': 0.39}, {'connected_gene': 'ENSG00000206651', 'score': 0.39}]
chr1	GH01I156281	156281041	156285474	2.61	[{'connected_gene': 'SMG5', 'score': 573.55}, {'connected_gene': 'TMEM79', 'score': 550.77}, {'connected_gene': 'GLMP', 'score': 27.07}, {'connected_gene': 'KHDC4', 'score': 22.27}, {'connected_gene': 'GON4L', 'score': 18.93}, {'connected_gene': 'RRNAD1', 'score': 12.85}, {'connected_gene': 'YY1AP1', 'score': 12.57}, {'connected_gene': 'SLC25A44', 'score': 12.47}, {'connected_gene': 'PAQR6', 'score': 11.81}, {'connected_gene': 'BGLAP', 'score': 11.78}, {'connected_gene': 'ENSG00000271267', 'score': 11.4}, {'connected_gene': 'ENSG00000252236', 'score': 11.1}, {'connected_gene': 'SEMA4A', 'score': 10.86}, {'connected_gene': 'PRCC', 'score': 10.86}, {'connected_gene': 'TSACC', 'score': 10.82}, {'connected_gene': 'CCT3', 'score': 10.77}, {'connected_gene': 'LAMTOR2', 'score': 10.64}, {'connected_gene': 'UBQLN4', 'score': 10.64}, {'connected_gene': 'LOC246784', 'score': 10.51}, {'connected_gene': 'MIR9-1', 'score': 10.1}, {'connected_gene': 'C1orf61', 'score': 10.09}, {'connected_gene': 'RUSC1-AS1', 'score': 10.04}, {'connected_gene': 'RXFP4', 'score': 9.33}, {'connected_gene': 'LMNA', 'score': 1.86}, {'connected_gene': 'ARHGEF2', 'score': 1.82}, {'connected_gene': 'RIT1', 'score': 1.62}]
chr1	GH01I156581	156581164	156584569	0.94	[{'connected_gene': 'TTC24', 'score': 14.77}, {'connected_gene': 'NAXE', 'score': 12.9}, {'connected_gene': 'GPATCH4', 'score': 12.3}, {'connected_gene': 'SMG5', 'score': 5.42}, {'connected_gene': 'HAPLN2', 'score': 5.0}]
chr1	GH01I156551	156551085	156554419	0.95	[{'connected_gene': 'NAXE', 'score': 19.02}, {'connected_gene': 'MEF2D', 'score': 13.21}, {'connected_gene': 'HAPLN2', 'score': 11.21}, {'connected_gene': 'BCAN', 'score': 10.7}, {'connected_gene': 'CCT3', 'score': 10.5}, {'connected_gene': 'C1orf61', 'score': 10.4}, {'connected_gene': 'MIR9-1', 'score': 10.39}, {'connected_gene': 'TSACC', 'score': 10.36}, {'connected_gene': 'SMG5', 'score': 4.59}, {'connected_gene': 'IQGAP3', 'score': 0.37}, {'connected_gene': 'GC01P156524', 'score': 0.31}]
chr1	GH01I156271	156271821	156272537	0.2	[{'connected_gene': 'GLMP', 'score': 37.33}, {'connected_gene': 'PAQR6', 'score': 25.89}, {'connected_gene': 'BGLAP', 'score': 11.83}, {'connected_gene': 'SEMA4A', 'score': 11.28}, {'connected_gene': 'SLC25A44', 'score': 11.16}, {'connected_gene': 'ENSG00000252236', 'score': 11.16}, {'connected_gene': 'TSACC', 'score': 10.78}, {'connected_gene': 'CCT3', 'score': 10.73}, {'connected_gene': 'LMNA', 'score': 10.35}, {'connected_gene': 'MEX3A', 'score': 10.35}, {'connected_gene': 'GC01M156228', 'score': 0.44}, {'connected_gene': 'SMG5', 'score': 0.39}, {'connected_gene': 'GC01M156251', 'score': 0.34}, {'connected_gene': 'PIR50521', 'score': 0.34}]
chr1	GH01I156270	156270097	156270927	0.2	[{'connected_gene': 'GLMP', 'score': 20.53}, {'connected_gene': 'PAQR6', 'score': 12.61}, {'connected_gene': 'BGLAP', 'score': 12.59}, {'connected_gene': 'PMF1', 'score': 11.26}, {'connected_gene': 'ENSG00000252236', 'score': 11.16}, {'connected_gene': 'SLC25A44', 'score': 11.16}, {'connected_gene': 'SEMA4A', 'score': 11.1}, {'connected_gene': 'LMNA', 'score': 10.92}, {'connected_gene': 'MEX3A', 'score': 10.92}, {'connected_gene': 'TSACC', 'score': 10.69}, {'connected_gene': 'CCT3', 'score': 10.64}, {'connected_gene': 'C1orf61', 'score': 9.62}, {'connected_gene': 'MIR9-1', 'score': 9.36}, {'connected_gene': 'GC01M156228', 'score': 0.44}, {'connected_gene': 'SMG5', 'score': 0.39}, {'connected_gene': 'GC01M156251', 'score': 0.34}, {'connected_gene': 'PIR50521', 'score': 0.34}]
chr1	GH01I156257	156257371	156257399	1.04	[{'connected_gene': 'GLMP', 'score': 11.74}, {'connected_gene': 'SEMA4A', 'score': 11.24}, {'connected_gene': 'LAMTOR2', 'score': 10.25}, {'connected_gene': 'UBQLN4', 'score': 10.25}, {'connected_gene': 'GC01M156251', 'score': 0.44}, {'connected_gene': 'PIR50521', 'score': 0.44}, {'connected_gene': 'GC01M156228', 'score': 0.34}, {'connected_gene': 'SMG5', 'score': 0.31}]
chr1	GH01I156262	156262313	156263738	0.58	[{'connected_gene': 'GLMP', 'score': 37.1}, {'connected_gene': 'SMG5', 'score': 21.9}, {'connected_gene': 'PAQR6', 'score': 20.78}, {'connected_gene': 'BGLAP', 'score': 12.61}, {'connected_gene': 'PMF1', 'score': 11.27}, {'connected_gene': 'SEMA4A', 'score': 11.23}, {'connected_gene': 'SLC25A44', 'score': 11.18}, {'connected_gene': 'ENSG00000252236', 'score': 11.17}, {'connected_gene': 'LMNA', 'score': 10.92}, {'connected_gene': 'MEX3A', 'score': 10.92}, {'connected_gene': 'TSACC', 'score': 10.83}, {'connected_gene': 'CCT3', 'score': 10.79}, {'connected_gene': 'LAMTOR2', 'score': 10.29}, {'connected_gene': 'UBQLN4', 'score': 10.29}, {'connected_gene': 'MIR9-1', 'score': 9.82}, {'connected_gene': 'C1orf61', 'score': 9.81}, {'connected_gene': 'GC01M156251', 'score': 0.39}, {'connected_gene': 'PIR50521', 'score': 0.39}, {'connected_gene': 'GC01M156228', 'score': 0.37}]
chr1	GH01I156388	156388706	156391698	0.57	[{'connected_gene': 'ENSG00000237390', 'score': 550.77}, {'connected_gene': 'RHBG', 'score': 5.35}, {'connected_gene': 'GLMP', 'score': 5.08}, {'connected_gene': 'SMG5', 'score': 4.47}, {'connected_gene': 'PIR42696', 'score': 0.44}]
chr1	GH01I156276	156276446	156277400	0.79	[{'connected_gene': 'GC01M156228', 'score': 550.77}, {'connected_gene': 'SMG5', 'score': 85.87}, {'connected_gene': 'PAQR6', 'score': 32.93}, {'connected_gene': 'GLMP', 'score': 27.04}, {'connected_gene': 'BGLAP', 'score': 11.83}, {'connected_gene': 'SEMA4A', 'score': 11.29}, {'connected_gene': 'SLC25A44', 'score': 11.16}, {'connected_gene': 'ENSG00000252236', 'score': 11.16}, {'connected_gene': 'TSACC', 'score': 10.79}, {'connected_gene': 'CCT3', 'score': 10.74}, {'connected_gene': 'LMNA', 'score': 10.35}, {'connected_gene': 'MEX3A', 'score': 10.35}, {'connected_gene': 'GC01M156251', 'score': 0.31}, {'connected_gene': 'PIR50521', 'score': 0.31}]
chr1	GH01I156346	156346202	156348058	0.43	[{'connected_gene': 'PIR62574', 'score': 550.77}, {'connected_gene': 'SMG5', 'score': 4.95}, {'connected_gene': 'TSACC', 'score': 0.44}, {'connected_gene': 'GC01M156356', 'score': 0.39}, {'connected_gene': 'CCT3', 'score': 0.34}]
chr1	GH01I156251	156251570	156251719	0.66	[{'connected_gene': 'GC01M156251', 'score': 550.77}, {'connected_gene': 'PIR50521', 'score': 550.77}, {'connected_gene': 'GC01M156228', 'score': 0.31}, {'connected_gene': 'SMG5', 'score': 0.29}]
chr1	GH01I156689	156689001	156694998	1.69	[{'connected_gene': 'ENSG00000237588', 'score': 550.77}, {'connected_gene': 'KHDC4', 'score': 52.09}, {'connected_gene': 'RRNAD1', 'score': 51.4}, {'connected_gene': 'GON4L', 'score': 47.23}, {'connected_gene': 'MSTO2P', 'score': 26.92}, {'connected_gene': 'LOC246784', 'score': 18.67}, {'connected_gene': 'CCT3', 'score': 16.35}, {'connected_gene': 'LOC105371453', 'score': 12.47}, {'connected_gene': 'BCAN', 'score': 12.41}, {'connected_gene': 'ISG20L2', 'score': 11.17}, {'connected_gene': 'PMF1', 'score': 11.04}, {'connected_gene': 'HDGF', 'score': 10.68}, {'connected_gene': 'SSR2', 'score': 10.43}, {'connected_gene': 'PRCC', 'score': 10.31}, {'connected_gene': 'GLMP', 'score': 10.17}, {'connected_gene': 'NAXE', 'score': 9.66}, {'connected_gene': 'CRABP2', 'score': 9.35}, {'connected_gene': 'SLC25A44', 'score': 4.74}, {'connected_gene': 'SMG5', 'score': 4.57}, {'connected_gene': 'TMEM79', 'score': 1.4}]